Jean-Pierre Fryns

Research.com Recognitions

• 2026 - Research.com Genetics in Belgium Leader Award
• 2025 - Research.com Genetics in Belgium Leader Award
• 2024 - Research.com Genetics in Belgium Leader Award
• 2023 - Research.com Genetics in Belgium Leader Award

Overview

Best Publications

• CHROMOSOME INSTABILITY IS COMMON IN HUMAN CLEAVAGE-STAGE EMBRYOS

  Evelyne Vanneste;Thierry Voet;Cédric Le Caignec;Cédric Le Caignec;Michèle Ampe

  990
  Citations

• X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

  Frédéric Laumonnier;Frédérique Bonnet-Brilhault;Marie Gomot;Romuald Blanc

  905
  Citations

• Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

  Hilde Van Esch;Marijke Bauters;Jaakko Ignatius;Mieke Jansen

  696
  Citations

• GATA3 haplo-insufficiency causes human HDR syndrome.

  H Van Esch;P Groenen;M A Nesbit;S Schuffenhauer

  624
  Citations

• Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

  P Billuart;T Bienvenu;N Ronce;des Portes

  609
  Citations

• Neurofibromatosis type 1

  Legius E;Descheemaeker Mj;Fryns Jp;Van den Berghe H

  597
  Citations

• Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease

  M. R. Nelen;W. C. G. Van Staveren;E. A. J. Peeters;Mohammed Ben Hassel

  589
  Citations

• Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

  Anil K. Agarwal;Jean Pierre Fryns;Richard J. Auchus;Abhimanyu Garg

  544
  Citations

• Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

  Hilde Brems;Magdalena Chmara;Magdalena Chmara;Mourad Sahbatou;Ellen Denayer

  525
  Citations

• Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

  P B Munroe;R O Olgunturk;Jean-Pierre Fryns;L Van Maldergem

  514
  Citations

• Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

  Petter Strømme;Marie E. Mangelsdorf;Marie E. Mangelsdorf;Marie A. Shaw;Karen M. Lower;Karen M. Lower

  503
  Citations

• Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

  Koenraad Devriendt;Annette S. Kim;Gert Mathijs;Suzanna G M Frints

  483
  Citations

• Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

  Alexandre Irrthum;Koenraad Devriendt;David Chitayat;Gert Matthijs

  480
  Citations

• p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

  Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  429
  Citations

• Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

  Lars Riff Jensen;Marion Amende;Ulf Gurok;Bettina Moser

  422
  Citations

• Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

  Juha Kolehmainen;Graeme C.M. Black;Graeme C.M. Black;Anne Saarinen;Kate Chandler

  422
  Citations

• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

  Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker

  421
  Citations

• Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

  Ann Swillen;Koenraad Devriendt;Eric Legius;Benedicte Eyskens

  414
  Citations

• Chromosome Instability Is Common in Human Cleavage-Stage Embryos

  Evelyne Vanneste;Thierry Voet;Cedric Le Caginec;Michele Ampe

  4
  Citations

• The neurobiology of autism.

  S T Potgieter;Jean-Pierre Fryns

  0
  Citations